Von Hippel-Lindau Syndrome

How is VHL diagnosed by doctors?

You may be clinically diagnosed with VHL if you meet two or more of following criteria:

• Two or more hemangioblastomas of the retina, spine or brain, or a single hemangioblastoma in association with multiple kidney or pancreatic cysts
• Renal cell carcinoma
• Phaeochromocytoma
• Endolymphatic sac tumours (ELST), papillary cystadenomas of the epididymis or broad ligament, or neuroendocrine tumours of the pancreas

Who should undergo genetic testing for VHL?

You should consider genetic testing if you or your family members meet one or more of the following criteria:

• Clinically diagnosed with VHL
• Clear cell renal cell carcinoma before the age of 40
• Bilateral or multifocal clear cell renal cell carcinoma
• Retinal angioma before the age of 40
• Brain hemangioblastoma before the age of 30
• Phaeochromocytoma before the age of 50
• A family history of phaeochromocytoma/paraganglioma
• Pancreatic neuroendocrine tumour
• ELST at any age
• Consideration of pregnancy with a known family history of VHL
• A previously identified faulty VHL gene in the family

The genetic testing criteria and guidelines for VHL testing may change as more information is available.

How can your genetic test result help you?

1. Personalised management
   There are several hereditary conditions (associated with different genes) which can predispose to features/symptoms similar to what is seen in individuals with VHL.
   
   Genetic testing is therefore beneficial to confirm a diagnosis of VHL, to determine whether personalised recommendations such as early and regular screenings are necessary to reduce risks associated with the condition.
   
   As VHL is a hereditary condition, testing can also help inform of reproductive risks, and help determine if testing is necessary for your family members and facilitate testing if so.

2. Familial implications
   Your genetic test result can also help you understand if other family members are at risk of VHL. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.
   
   Family members who have inherited the same faulty VHL gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).
   
   Family members who did not inherit the faulty VHL gene can avoid unnecessary screening and worry. Their children will also not be at risk.